Linked Data
ClinVar Variation Id:
1206070
dbSNP Id:
rs150792057
ExAC:
1:27099830 C / T
gnomAD v2:
1-27099830-C-T
gnomAD v3:
1-26773339-C-T
gnomAD v4:
1-26773339-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26773339C>T , CM000663.2:g.26773339C>T | GRCh38 |
| NC_000001.10:g.27099830C>T , CM000663.1:g.27099830C>T | GRCh37 |
| NC_000001.9:g.26972417C>T | NCBI36 |
| NG_029965.1:g.82309C>T , LRG_875:g.82309C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.3716-7C>T MANE Select | ENSP00000320485.7:n.3716-7C>T | |
| ENST00000374152.7:c.2567-7C>T | ENSP00000363267.2:n.2567-7C>T | |
| ENST00000430799.7:c.2564-7C>T | ENSP00000390317.3:n.2564-7C>T | |
| ENST00000466382.2:c.25-7C>T | ||
| ENST00000636072.1:n.26-7C>T | ||
| ENST00000636219.1:c.2570-7C>T | ENSP00000489842.1:n.2570-7C>T | |
| ENST00000636794.1:n.22-7C>T | ||
| ENST00000324856.11:c.3716-7C>T | ENSP00000320485.7:n.3716-7C>T | |
| ENST00000374152.6:c.2567-7C>T | ENSP00000363267.2:n.2567-7C>T | |
| ENST00000430799.6:c.405-7C>T | ||
| ENST00000457599.6:c.3716-7C>T | ENSP00000387636.2:n.3716-7C>T | |
| ENST00000466382.1:c.25-7C>T | ||
| ENST00000615191.4:c.2564-7C>T | ENSP00000478955.1:n.2564-7C>T | |
| NM_006015.4:c.3716-7C>T , LRG_875t1:c.3716-7C>T | NP_006006.3:n.3716-7C>T | |
| NM_139135.2:c.3716-7C>T | NP_624361.1:n.3716-7C>T | |
| NM_006015.5:c.3716-7C>T | NP_006006.3:n.3716-7C>T | |
| NM_139135.3:c.3716-7C>T | NP_624361.1:n.3716-7C>T | |
| NM_006015.6:c.3716-7C>T MANE Select | NP_006006.3:n.3716-7C>T | |
| NM_139135.4:c.3716-7C>T | NP_624361.1:n.3716-7C>T |